Canonical Allele Identifier: CA1866690979
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830044883

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97793837A>C , CM000671.2:g.97793837A>C GRCh38
NC_000009.11:g.100556119A>C , CM000671.1:g.100556119A>C GRCh37
NC_000009.10:g.99595940A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930161.1:n.363+16058T>G
XR_930162.1:n.6522A>C
NR_147055.1:n.777+10414T>G